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BPIFA2 Gene

protein-coding   GIFtS: 42
GCID: GC20P031750

BPI Fold Containing Family A, Member 2

(Previous name: chromosome 20 open reading frame 70)
(Previous symbol: C20orf70)
  Search for BPIFA2
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
BPI Fold Containing Family A, Member 21 2     SPLUNC22 3
C20orf701 2 3     Chromosome 20 Open Reading Frame 701
Parotid Secretory Protein2 3     bA49G10.12
Short Palate, Lung And Nasal Epithelium Carcinoma-Associated Protein 22 3     BPI Fold-Containing Family A Member 22
PSP2 3     Short Palate, Lung And Nasal Epithelium Carcinoma Associated 22

External Ids:    HGNC: 162031   Entrez Gene: 1406832   Ensembl: ENSG000001310507   UniProtKB: Q96DR53   

Export aliases for BPIFA2 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for BPIFA2 Gene:
BPIFA2 (BPI fold containing family A, member 2) is a protein-coding gene. GO annotations related to this gene include lipid binding.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000020.11  NT_011362.11  NC_018931.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for BPIFA2
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for BPIFA2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BPIFA2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20q11.21   Ensembl cytogenetic band:  20q11.21   HGNC cytogenetic band: 20q11.21

BPIFA2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BPIFA2 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P031750:  view genomic region     (about GC identifiers)

Start:
31,749,574 bp from pter      End:
31,769,223 bp from pter
Size:
19,650 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: BPIA2_HUMAN, Q96DR5 (See protein sequence)
Recommended Name: BPI fold-containing family A member 2 precursor  
Size: 249 amino acids; 27011 Da
Secondary accessions: Q9BQQ0

Explore the universe of human proteins at neXtProt for BPIFA2: NX_Q96DR5

Explore proteomics data for BPIFA2 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn124, Asn132

  • See BPIFA2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_542141.1  
    ENSEMBL proteins: 
     ENSP00000253362   ENSP00000347012  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    BPIF: BPI fold containing

    2 InterPro protein domains:
     IPR017942 Lipid-bd_serum_glycop_N
     IPR017943 Bactericidal_perm-incr_a/b_dom

    Graphical View of Domain Structure for InterPro Entry Q96DR5

    ProtoNet protein and cluster: Q96DR5

    UniProtKB/Swiss-Prot: BPIA2_HUMAN, Q96DR5
    Similarity: Belongs to the BPI/LBP/Plunc superfamily. Plunc family


    BPIFA2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001530lipopolysaccharide binding IDA--
    GO:0008289lipid binding ----
         
    BPIFA2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for BPIFA2:
     Synthetic lethal with Ras 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BPIA2_HUMAN, Q96DR5: Secreted (By similarity)

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IDA19499239
    GO:0070062extracellular vesicular exosome IDA19199708

    BPIFA2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BPIFA2
    Interactions:

        Search GeneGlobe Interaction Network for BPIFA2

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BPIFA2 (BPIA2)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for BPIFA2 gene: 
    NM_080574.2  

    Unigene Cluster for BPIFA2:

    BPI fold containing family A, member 2
    Hs.125960  [show with all ESTs]
    Unigene Representative Sequence: AK291854
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000253362 ENST00000354932(uc002wyo.1)
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    Additional mRNA sequence: 

    AF432917.1 AK291854.1 AY359055.1 BC065726.1 

    4 DOTS entries:

    DT.100670702  DT.100798293  DT.100798295  DT.65287480 

    Selected AceView cDNA sequences (see all 63):

    BX279895 AI002928 BX484489 AK130550 CA311567 BX485066 AA693448 AF432917 
    AY359055 CB985761 CB986542 CB985333 CB985631 CB984922 NM_080574 CB986684 
    CB986747 CB956408 BX487606 CB955995 CB985251 CB958997 BX486580 BX485187 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BPIFA2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTGATTGGTT
    BPIFA2 Expression
    About this image


    BPIFA2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Brain (Nervous System)
             Hypothalamus
    BPIFA2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BPIFA2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.125960

    UniProtKB/Swiss-Prot: BPIA2_HUMAN, Q96DR5
    Tissue specificity: Detected in submandibular gland

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BPIFA2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of human and mouse.

    Orthologs for BPIFA2 gene from Selected species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bpifa21 , 5 BPI fold containing family A, member 21, 5 57.55(n)1
    37.22(a)1
      2 (76.15 cM)5
    191941  NM_008953.21  NP_032979.11 
     1540082655 


    ENSEMBL Gene Tree for BPIFA2 (if available)
    TreeFam Gene Tree for BPIFA2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BPIFA2 (see all 423)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1454592331,2
    C--31754069(+) CTGCCC/TGCCTC 1 -- us2k10--------
    rs1488312171,2
    --31754168(+) CCATAC/GTAAAG 1 -- us2k10--------
    rs1164738091,2
    C,F--31754197(+) ACCATC/GGTAAG 1 -- us2k11Minor allele frequency- G:0.03WA 118
    rs1179318331,2
    C,F--31754219(+) TGCGCA/GCATAT 1 -- us2k11Minor allele frequency- G:0.05NA 120
    rs60591341,2
    C,F,A,H--31754236(+) GCATCT/ATCTTC 1 -- us2k117Minor allele frequency- A:0.16NS EA NA CSA WA 2165
    rs1117774191,2
    C,F--31754258(+) TGTTGC/TCGTGC 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1811282831,2
    --31754271(+) CATGGA/GCCTAC 1 -- us2k10--------
    rs1856150911,2
    --31754291(+) AGCCTA/TCATGG 1 -- us2k10--------
    rs60874601,2
    H--31754305(+) ttacaC/Ataatt 1 -- us2k14Minor allele frequency- A:0.00NS EA 418
    rs1901753121,2
    --31754327(+) CATGCC/TCTTGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for BPIFA2 (31749574 - 31769223 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for BPIFA2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2751912CNV Loss17911159
    nsv458964CNV Loss19166990

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BPIFA2 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with BPIFA2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PLUNC: a novel family of candidate host defence proteins expressed in the upper airways and nasopharynx. (PubMed id 11971875)1, 2, 3 Bingle C.D. and Craven C.J. (Hum. Mol. Genet. 2002)
    2. Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry. (PubMed id 16740002)1, 2 Ramachandran P....Loo J.A. (J. Proteome Res. 2006)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    4. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    5. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    6. Human parotid secretory protein is a lipopolysaccharide-binding protein: identification of an anti-inflammatory peptide domain. (PubMed id 21833535)1 Abdolhosseini M....Gorr S.U. (Mol. Cell. Biochem. 2012)
    7. Systematic nomenclature for the PLUNC/PSP/BSP30/SMGB proteins as a subfamily of the BPI fold-containing superfamily. (PubMed id 21787333)1 Bingle C.D....Craven C.J. (Biochem. Soc. Trans. 2011)
    8. Characterisation and expression of SPLUNC2, the human orthologue of rodent parotid secretory protein. (PubMed id 19499239)1 Bingle L....Bingle C.D. (Histochem. Cell Biol. 2009)
    9. Proteomic analysis of human parotid gland exosomes by multidimensional protein identification technology (MudPIT). (PubMed id 19199708)1 Gonzalez-Begne M....Yates J.R. (J. Proteome Res. 2009)
    10. Expression of PLUNC family members in benign and malignant salivary gland tumours. (PubMed id 18221458)1 Vargas P.A....Bingle L. (Oral Dis 2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 140683 HGNC: 16203 AceView: C20orf70 Ensembl:ENSG00000131050 euGenes: HUgn140683
    ECgene: BPIFA2 H-InvDB: BPIFA2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for BPIFA2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BPIFA2 gene:
    Search GeneIP for patents involving BPIFA2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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